Results 1 to 10 of about 4,289 (137)
Zhongshan Daxue xuebao. Yixue kexue ban, 2023 目的探讨18q缺失综合征的产前诊断方法，提高对无创产前筛查（NIPT）技术在18q缺失综合征产前诊断中应用价值的认识。方法本研究通过对孕妇进行血清学筛查、超声影像学检查、羊水核型分析及亲本外周血染色体核型分析等传统检查手段以及NIPT检查、染色体微阵列芯片检测（CMA）、流产组织基因组拷贝数变异测序（CNV-Seq）检测等分子生物学技术来诊断18q缺失综合征，并根据检查结果进行遗传咨询。结果该病例NIPT结果提示18号染色体24 Mb片段缺失，经过羊水核型分析及CMA检测证实 ...
马莉 +4 more
doaj +3 more sources
Screening of β-thalassemia trait among pregnant women with NESTROFT
Thalassemia Reports, 2015 The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test.
Hitesh Sarda +2 more
doaj +4 more sources
Zhongshan Daxue xuebao. Yixue kexue ban, 2020 先天性心脏病作为我国发病率最高的出生缺陷，给患者家庭和社会造成巨大的负担，其发病由遗传和环境因素共同作用。目前国内尚缺乏先心病孕前-产前-生后一体化的三级综合防控体系。通过有效的风险预测并进行一级预防，开展产前早期无创筛查诊断、产后早期干预诊疗技术，健全成人先天性心脏病全生命周期健康管理体系，建立符合中国国情且具有代表性的先天性心脏病综合干预模式，有望提高我国先天性心脏病防控能力，改善出生人口素质。本文将围绕先天性心脏病孕前-产前-生后一体化的三级综合防控技术的研究及体系的建立展开论述总结。
陈寄梅
doaj +2 more sources
2024版EAU/ESPU小儿泌尿外科指南有关先天性下尿路梗阻更新要点解读 [PDF]
浙江大学学报. 医学版先天性下尿路梗阻（CLUTO）是一类由尿道解剖结构异常导致梗阻的胎儿畸形，以围产期高并发症发生率和病死率为特征。2024年欧洲泌尿外科学会（EAU）和欧洲小儿泌尿外科学会（ESPU）联合发布一项小儿泌尿外科指南，针对CLUTO的全周期管理进行了系统性修订，在产前产后筛查和精准诊断、胎儿预后评估、产前干预指征和干预方式选择、产后治疗策略优化、终生随访框架和全周期管理路径构建等方面进行了重要更新。本文基于2024版EAU/ESPU指南内容，与2022年欧洲罕见肾病参考网（ERKNet）共识对照 ...
梅 伶俐 +4 more
doaj +2 more sources
结合临床与超声影像多模态数据构建小于胎龄儿预测模型 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban目的探索结合妊娠早期和妊娠中期的临床数据与超声影像多模态数据对小于胎龄儿（SGA）的预测价值，构建和内部验证基于多种机器学习算法的SGA 预测模型。方法本研究回顾性纳入单胎妊娠孕妇1 307例，根据INTERGROWTH-21st胎儿生长标准诊断SGA并采集包括临床一般资料、生化检验数据及产前超声筛查数据的多模态数据。轻度梯度增强算法（XGBoost）用于计算变量重要性，七种机器学习算法用于预测模型的构建与内部验证，受试者工作特性曲线下面积（AUC）作为衡量预测效能的主要指标，结合10 ...
陈心雨, 朱云晓
doaj +3 more sources
Zhongshan Daxue xuebao. Yixue kexue ban, 2004 目的】探讨妊娠相关血浆蛋白A(PAPP-A)在妊娠中。晚期筛查染色体病胎儿的价值。【方法】 检测3 140例单胎妊娠13周～36周孕妇血清PAPP-A水平,其中508例孕妇于孕期取羊水或脐带血检测胎儿染色体核型。应用Mann-Whitney U检验。ROC分析等对孕妇妊娠中。晚期的血清PAPP-A水平与非整倍体胎儿的关系进行分析。【结果】 ① 正常妊娠中。晚期各孕周的孕妇血清PAPP浓度随孕周的增长而上升。② 3 140例胎儿中共发现非整倍体15例, 60%(9/15)病例的母体血清PAPP-A水平 ...
林琳华, 游泽山, 任景慧
doaj +1 more source
A case of spinocerebellar ataxia type 28 with orthostatic tremor [PDF]
, 2023 Spinocerebellar ataxia (SCA) is a rare autosomal neurodegenerative disease. SCA28 is a rare subtype, caused by heterozygous mutation of the pathogenic gene AFG3L2. The clinical features usually include slowly progressive gait and limb ataxia, dysarthria,
LIU Shihua, WANG Qunfeng
core +1 more source
Characteristics of Cancer Epidemiology among 0-14 years old Chinese Children，2005—2015 [PDF]
, 2022 BackgroundCancer has become a leading cause of death for Chinese children, imposing a great economic burden on society and families. Therefore, it is extremely important to understand the epidemicsizes and trends of childhood malignancies.ObjectiveTo ...
TANG Hui, GUO Hong, CAO Fang, YAN Yizhong, HE Jia, GUO Heng, CUI Xiaobin, HU Yunhua
core +1 more source
Analysis on Forensic Expertise of 49 Medical Disputes in Prenatal Examination [PDF]
, 2018 Objective To analyze the cases of medical disputes involving prenatal examination from a point of view of forensic expertise, and to discuss the risk of medical disputes and the preventive measures.
YANG Xiao-ping, CHEN Fang, LIU Xia, et al.
core +1 more source